P10S (p.Pro10Ser) variant of ALDH2 (P05091)
P10S (p.Pro10Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- gnomAD 12-111767010-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available